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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-23380566-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23380566&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PP5",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCNN1B",
"hgnc_id": 10600,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 1,
"score": 0,
"transcript": "NM_000336.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5,BP4",
"acmg_score": 0,
"allele_count_reference_population": 139,
"alphamissense_prediction": null,
"alphamissense_score": 0.0809,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal recessive, low aldosterone hypertension, type IB2,Bronchiectasis with or without elevated sweat chloride 1,Liddle syndrome 1,Low renin,Pseudohypoaldosteronism,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11143720149993896,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000336.3",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343070.7",
"protein_coding": true,
"protein_id": "NP_000327.2",
"strand": true,
"transcript": "NM_000336.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000343070.7",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000336.3",
"protein_coding": true,
"protein_id": "ENSP00000345751.2",
"strand": true,
"transcript": "ENST00000343070.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 685,
"aa_ref": "R",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 1850,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1823,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000307331.9",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1823G>A",
"hgvs_p": "p.Arg608Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000302874.5",
"strand": true,
"transcript": "ENST00000307331.9",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 672,
"aa_ref": "R",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1784,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000962247.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632306.1",
"strand": true,
"transcript": "ENST00000962247.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2618,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890249.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560308.1",
"strand": true,
"transcript": "ENST00000890249.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000890250.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560309.1",
"strand": true,
"transcript": "ENST00000890250.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000890252.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560311.1",
"strand": true,
"transcript": "ENST00000890252.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890258.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560317.1",
"strand": true,
"transcript": "ENST00000890258.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890259.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560318.1",
"strand": true,
"transcript": "ENST00000890259.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000928026.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598085.1",
"strand": true,
"transcript": "ENST00000928026.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 1888,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000928027.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598086.1",
"strand": true,
"transcript": "ENST00000928027.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 640,
"aa_ref": "R",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1688,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000962248.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632307.1",
"strand": true,
"transcript": "ENST00000962248.1",
"transcript_support_level": null
},
{
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"aa_length": 639,
"aa_ref": "R",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1685,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890257.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Arg562Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560316.1",
"strand": true,
"transcript": "ENST00000890257.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 637,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000890251.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560310.1",
"strand": true,
"transcript": "ENST00000890251.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 637,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000928028.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598087.1",
"strand": true,
"transcript": "ENST00000928028.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 637,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000962244.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632303.1",
"strand": true,
"transcript": "ENST00000962244.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 632,
"aa_ref": "R",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1664,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000962246.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Arg555Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632305.1",
"strand": true,
"transcript": "ENST00000962246.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 613,
"aa_ref": "R",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1842,
"cds_start": 1607,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000568923.5",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1607G>A",
"hgvs_p": "p.Arg536Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456309.1",
"strand": true,
"transcript": "ENST00000568923.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
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"aa_length": 604,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2452,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001410900.1",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397829.1",
"strand": true,
"transcript": "NM_001410900.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000568085.5",
"gene_hgnc_id": 10600,
"gene_symbol": "SCNN1B",
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455673.1",
"strand": true,
"transcript": "ENST00000568085.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 601,
"aa_ref": "R",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1806,
"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 12,
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